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Eur J Med Genet. 2017 Dec;60(12):655-657. doi: 10.1016/j.ejmg.2017.08.018. Epub 2017 Sep 1.

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

Author information

1
Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
2
Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
3
Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari 'Aldo Moro', Bari, Italy.
4
Paediatric Neurology and Muscular Disorders Unit, Gaslini Institute, Genoa, Italy.
5
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Italy.
6
Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy.
7
Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy. Electronic address: brunetti@tigem.it.

Abstract

Post-zygotic activating mutations in PIK3CA and other genes encoding members of PI3K-AKT-mTOR pathway have been found in various overgrowth syndromes that have been grouped together as PIK3CA-related overgrowth spectrum (PROS). We report a female patient with gait disturbance, leg pain, isolated macrodactyly of the foot, and mild intellectual disability. Imaging of the lower limb showed a lipoblastoma of the right thigh. A mosaic gain-of-function mutation in the catalytic domain of PIK3CA (c.3140 A > G; p.His1047Arg) was detected in the adipose tissue and in skin cultured fibroblasts from the macrodactyly but not in blood. The leg pain and the severe walking disturbance improved slightly over time and serial MRI of the lower limbs suggested that the size of the lipoblastoma relative to the lower limb muscles or to the whole lower limb was unchanged as consequence of limb growth. This case report illustrates that pain and gait disturbance can be features of PROS and highlights the need of better knowledge about the natural history of the disease.

KEYWORDS:

Macrodactyly; Mosaicism; Neuropathic pain; Overgrowth; PIK3CA

PMID:
28867506
DOI:
10.1016/j.ejmg.2017.08.018
[Indexed for MEDLINE]

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